Analysis of LRRK2 Functional Domains in Nondominant Parkinson Disease

Overview

Journal Neurology

Specialty Neurology

Date 2005 Oct 26

PMID 16247070

Citations 17

Authors

L Skipper

H Shen

E Chua

C Bonnard

P Kolatkar

L C S Tan

R D Jamora

K Puvan

K Y Puong

Y Zhao

R Pavanni

M C Wong

Y Yuen

M Farrer

J J Liu

E K Tan

Affiliations

Soon will be listed here.

Abstract

A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed. Novel variant screening in a further 470 sporadic PD patients and 630 controls revealed two novel variants (R1067Q and IVS33 + 6 T>A), which are likely to be pathogenic in five patients. One patient presented initially with a typical essential tremor phenotype, expanding the phenotypic spectrum of LRRK2 mutations.

Citing Articles

Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant.

Lim S, Toh T, Hor J, Lim J, Lit L, Ahmad-Annuar A NPJ Parkinsons Dis. 2025; 11(1):34.

PMID: 39988587 PMC: 11847920. DOI: 10.1038/s41531-025-00884-6.

Parkinson's Disease is Predominantly a Genetic Disease.

Lim S, Klein C J Parkinsons Dis. 2024; 14(3):467-482.

PMID: 38552119 PMC: 11091652. DOI: 10.3233/JPD-230376.

A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.

Salemi M, Lanza G, Salluzzo M, Schillaci F, Di Blasi F, Cordella A Biomedicines. 2023; 11(12).

PMID: 38137339 PMC: 10740523. DOI: 10.3390/biomedicines11123118.

LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Zhang X, Kortholt A Biomolecules. 2023; 13(4).

PMID: 37189360 PMC: 10135577. DOI: 10.3390/biom13040612.

Case-control analysis of LRRK2 protective variants in Essential Tremor.

Ng A, Ng E, Tan Y, Prakash K, Au W, Tan L Sci Rep. 2018; 8(1):5346.

PMID: 29593234 PMC: 5871891. DOI: 10.1038/s41598-018-23711-w.